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EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genet...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer International Publishing
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7609334/ https://www.ncbi.nlm.nih.gov/pubmed/32616876 http://dx.doi.org/10.1038/s41431-020-0653-5 |